3-year-old girl with rickets and hepatomegaly.
Proesmans
W
W
Department of Paediatrics, University Hospital, Leuven, Belgium.
Decoster
J
J
Breysem
L
L
Jaeken
J
J
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D001707:Biopsy, Needle; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006529:Hepatomegaly / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D008111:Liver Function Tests; D008279:Magnetic Resonance Imaging; D012279:Rickets / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D014443:Tyrosine / Q000097:blood*
D014443:Tyrosine